Molecular analysis of simple variant translocations in acute promyelocytic leukemia

Julian Borrow, Kathy Howe, Audrey Goddard, Ellen Solomon, Janet Shipley, Fiona Kiely, Denise Sheer, Arun Srivastava, Asok C. Antony, Thoas Fioretos, Felix Mitelman

Research output: Contribution to journalArticle

30 Scopus citations


The primary cytogenetic abnormality in acute promyelocytic leukemia (APL; FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. A PML‐RARA fusion message transcribed from the der(15) is thought to mediate leukemogenesis. Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT‐PCR), and fluorescence in situ hybridization. The results indicate an absolute requirement for the rearrangement of the RAARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation. Genes Chrom Cancer 9:234‐243 (1994). © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)234-243
Number of pages10
JournalGenes, Chromosomes and Cancer
Issue number4
StatePublished - Apr 1994

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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    Borrow, J., Howe, K., Goddard, A., Solomon, E., Shipley, J., Kiely, F., Sheer, D., Srivastava, A., Antony, A. C., Fioretos, T., & Mitelman, F. (1994). Molecular analysis of simple variant translocations in acute promyelocytic leukemia. Genes, Chromosomes and Cancer, 9(4), 234-243.